Cardio-facio-cutaneous (CFC) syndrome a distinct entity? Report of three patients demonstrating the diagnostic difficulties in delineation of CFC syndrome

Dagmar Wieczorek*, Frank Majewski, Gabriele Gillessen-Kaesbach

*Corresponding author for this work
44 Citations (Scopus)

Abstract

We report on three patients with probable cardio-facio-cutaneous (CFC) syndrome. They present clinical findings of this condition such as: growth failure, heart defects, typical craniofacial appearance, ectodermal abnormalities, and developmental delay. We also give a detailed review of the previously published articles on CFC syndrome and discuss the differences between CFC, Noonan, and Costello syndromes. Other differential diagnoses are considered.

Original languageEnglish
JournalClinical Genetics
Volume52
Issue number1
Pages (from-to)37-46
Number of pages10
ISSN0009-9163
DOIs
Publication statusPublished - 1997

Research Areas and Centers

  • Research Area: Medical Genetics

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